Variant report

Variant	rs7244127
Chromosome Location	chr18:45579063-45579064
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4072891	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4468699	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4528649	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4940202	0.90[EUR][1000 genomes]
rs4940217	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67466227	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67927311	0.81[EUR][1000 genomes]
rs7226941	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7239672	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243697	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245101	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8099419	0.90[EUR][1000 genomes]
rs9945580	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9951809	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9958955	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9960301	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9960608	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45573800-45596400	Weak transcription	Aorta	Aorta
2	chr18:45574200-45581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:45576800-45580600	Weak transcription	Left Ventricle	heart
4	chr18:45577000-45601800	Weak transcription	Gastric	stomach
5	chr18:45577200-45579400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45577200-45580200	Weak transcription	Colonic Mucosa	Colon
7	chr18:45577200-45595200	Weak transcription	Lung	lung
8	chr18:45577600-45579200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:45577800-45580200	Weak transcription	Placenta	Placenta
10	chr18:45578200-45579400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr18:45578200-45586000	Weak transcription	Stomach Mucosa	stomach
12	chr18:45578400-45579600	Enhancers	Ovary	ovary
13	chr18:45578600-45579800	Enhancers	Fetal Intestine Large	intestine
14	chr18:45578800-45579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:45578800-45579800	Enhancers	Pancreas	Pancrea
16	chr18:45578800-45581000	Genic enhancers	Esophagus	oesophagus
17	chr18:45578800-45581400	Enhancers	Spleen	Spleen
18	chr18:45579000-45579400	Bivalent Enhancer	HepG2	liver
19	chr18:45579000-45581400	Enhancers	Fetal Kidney	kidney

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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